has material basis in germline mutation in ETHE1 ethylmalonic encephalopathy https://github.com/monarch-initiative/mondo/issues/5671 https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy https://www.malacards.org/card/encephalopathy_ethylmalonic OMIM:602473 MONDO:0011229 MESH:C535737 UMLS:C1865349 icd11.foundation:1966714550 EE Orphanet:51188 SCTID:723307008 MEDGEN:355966 DOID:0060640 Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. EPEMA syndrome encephalopathy, petechiae, and ethylmalonic aciduria GARD:0002198 encephalopathy, ethylmalonic eme syndrome of encephalopathy, petechiae, and ethylmalonic aciduria mitochondrial disease Mendelian encephalopathy